• delete

NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523939.1

Allele description

NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
HGVS:
  • NC_000002.12:g.165308794C>T
  • NG_008143.1:g.74393C>T
  • NM_001040142.2:c.605C>TMANE SELECT
  • NM_001040143.2:c.605C>T
  • NM_001371246.1:c.605C>T
  • NM_001371247.1:c.605C>T
  • NM_021007.3:c.605C>T
  • NP_001035232.1:p.Ala202Val
  • NP_001035233.1:p.Ala202Val
  • NP_001358175.1:p.Ala202Val
  • NP_001358176.1:p.Ala202Val
  • NP_066287.2:p.Ala202Val
  • NP_066287.2:p.Ala202Val
  • NC_000002.11:g.166165304C>T
  • NM_021007.2:c.605C>T
Protein change:
A202V
Links:
Molecular consequence:
  • NM_001040142.2:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616961GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 29, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000616961.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the SCN2A gene. The A202V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. This substitution alters a position conserved across species that is predicted to be within the transmembrane segment S3 in the first homologous domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A202V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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